Product Details

SNP ID

rs200227851

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:149943890 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTGCACCAGGAGCTCCCCATCCGG[G/T]TCCCGCTCCCTCCTCCTCAGTTCTT

Phenotype

MIM: 611748

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

MTMR11 PubMed Links

Gene Details

Gene

MTMR11

Gene Name

myotubularin related protein 11

There are no transcripts associated with this gene.

Gene

OTUD7B

Gene Name

OTU deubiquitinase 7B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020205.3	2597	Missense Mutation	GAA,GAC	E833D	NP_064590.2
XM_011509782.1	2597	Missense Mutation	GAA,GAC	E842D	XP_011508084.1
XM_011509783.2	2597	Missense Mutation	GAA,GAC	E842D	XP_011508085.1
XM_011509784.2	2597	Missense Mutation	GAA,GAC	E842D	XP_011508086.1
XM_011509785.2	2597	Missense Mutation	GAA,GAC	E842D	XP_011508087.1
XM_011509786.1	2597	Missense Mutation	GAA,GAC	E763D	XP_011508088.1
XM_011509787.1	2597	Missense Mutation	GAA,GAC	E763D	XP_011508089.1
XM_011509788.1	2597	Missense Mutation	GAA,GAC	E763D	XP_011508090.1
XM_017001850.1	2597	Missense Mutation	GAA,GAC	E754D	XP_016857339.1
XM_017001851.1	2597	Missense Mutation	GAA,GAC	E704D	XP_016857340.1

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